Clinical manifestations and treatment of Anderson-Fabry disease in a middle age man (RCD code: III-2B.2a)
Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry’s disease: ceramidetrihexosidase deficiency. The New England Journal of Medicine 1967; 276: 1163 –1167.
Desnick RIY, Eng C. Fabry disease: alpha galactosidase A deficienca. The metabolic and molecular bases of inherited disease. 1995; 1741–2784.
Branton MH, Schiffmann R, Sabnis SG et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81: 122.
Desnick R, Ioannou Y, Eng C. Alpha-galactosidase. A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, et al. (eds.), McGraw Hill, New York 2001; 3733.
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001; 38: 750.
Waldek S, Patel MR, Banikazemi M et al. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009; 11: 790–796.
Seydelmann N, Wanner Ch, StörkS et al. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab. 2015; 29: 195–204.
Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM 2010; 103: 641–659.
- There are currently no refbacks.